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Aliases for LAMB2 Gene

Aliases for LAMB2 Gene

  • Laminin Subunit Beta 2 2 3 5
  • Laminin, Beta 2 (Laminin S) 2 3
  • S-Laminin Subunit Beta 3 4
  • Laminin B1s Chain 3 4
  • S-LAM Beta 3 4
  • Laminin S 2 3
  • LAMS 3 4
  • Laminin-11 Subunit Beta 4
  • Laminin-14 Subunit Beta 4
  • Laminin-15 Subunit Beta 4
  • Laminin-3 Subunit Beta 4
  • Laminin-4 Subunit Beta 4
  • Laminin-7 Subunit Beta 4
  • Laminin-9 Subunit Beta 4
  • NPHS5 3

External Ids for LAMB2 Gene

Previous HGNC Symbols for LAMB2 Gene

  • LAMS

Previous GeneCards Identifiers for LAMB2 Gene

  • GC03P046915
  • GC03P048475
  • GC03M049012
  • GC03M049117
  • GC03M049133
  • GC03M049163

Summaries for LAMB2 Gene

Entrez Gene Summary for LAMB2 Gene

  • Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the beta chain isoform laminin, beta 2. The beta 2 chain contains the 7 structural domains typical of beta chains of laminin, including the short alpha region. However, unlike beta 1 chain, beta 2 has a more restricted tissue distribution. It is enriched in the basement membrane of muscles at the neuromuscular junctions, kidney glomerulus and vascular smooth muscle. Transgenic mice in which the beta 2 chain gene was inactivated by homologous recombination, showed defects in the maturation of neuromuscular junctions and impairment of glomerular filtration. Alternative splicing involving a non consensus 5' splice site (gc) in the 5' UTR of this gene has been reported. It was suggested that inefficient splicing of this first intron, which does not change the protein sequence, results in a greater abundance of the unspliced form of the transcript than the spliced form. The full-length nature of the spliced transcript is not known. [provided by RefSeq, Aug 2011]

GeneCards Summary for LAMB2 Gene

LAMB2 (Laminin Subunit Beta 2) is a Protein Coding gene. Diseases associated with LAMB2 include pierson syndrome and nephrotic syndrome, type 5, with or without ocular abnormalities. Among its related pathways are Degradation of the extracellular matrix and Blood-Brain Barrier and Immune Cell Transmigration: Pathways Overview. GO annotations related to this gene include structural molecule activity and integrin binding. An important paralog of this gene is LAMC2.

UniProtKB/Swiss-Prot for LAMB2 Gene

  • Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.

Gene Wiki entry for LAMB2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LAMB2 Gene

Genomics for LAMB2 Gene

Regulatory Elements for LAMB2 Gene

Promoters for LAMB2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around LAMB2 on UCSC Golden Path with GeneCards custom track

Genomic Location for LAMB2 Gene

Chromosome:
3
Start:
49,121,114 bp from pter
End:
49,133,166 bp from pter
Size:
12,053 bases
Orientation:
Minus strand

Genomic View for LAMB2 Gene

Genes around LAMB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LAMB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LAMB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LAMB2 Gene

Proteins for LAMB2 Gene

  • Protein details for LAMB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P55268-LAMB2_HUMAN
    Recommended name:
    Laminin subunit beta-2
    Protein Accession:
    P55268
    Secondary Accessions:
    • Q16321

    Protein attributes for LAMB2 Gene

    Size:
    1798 amino acids
    Molecular mass:
    195981 Da
    Quaternary structure:
    • Laminin is a complex glycoprotein, consisting of three different polypeptide chains (alpha, beta, gamma), which are bound to each other by disulfide bonds into a cross-shaped molecule comprising one long and three short arms with globules at each end. Beta-2 is a subunit of laminin-3 (laminin-121 or S-laminin), laminin-4 (laminin-221 or S-merosin), laminin-7 (laminin-321 or KS-laminin), laminin-9 (laminin-421), laminin-11 (laminin-521), laminin-14 (laminin-423) and laminin-15 (laminin-523).

neXtProt entry for LAMB2 Gene

Proteomics data for LAMB2 Gene at MOPED

Post-translational modifications for LAMB2 Gene

  • Glycosylation at Asn 248, Asn 368, Asn 1085, Asn 1249, Asn 1308, Asn 1348, and Asn 1499
  • Modification sites at PhosphoSitePlus

Other Protein References for LAMB2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for LAMB2 Gene

Domains & Families for LAMB2 Gene

Gene Families for LAMB2 Gene

Protein Domains for LAMB2 Gene

Suggested Antigen Peptide Sequences for LAMB2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P55268

UniProtKB/Swiss-Prot:

LAMB2_HUMAN :
  • The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structure.
Domain:
  • The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structure.
  • Domains VI and IV are globular.
  • Contains 13 laminin EGF-like domains.
  • Contains 1 laminin IV type B domain.
  • Contains 1 laminin N-terminal domain.
genes like me logo Genes that share domains with LAMB2: view

Function for LAMB2 Gene

Molecular function for LAMB2 Gene

GENATLAS Biochemistry:
laminin,beta 2 polypeptide,component of basement membrane of skeletal muscle neuromuscular junction,kidney glomerulus,nerve fascicle perineurium,vascular smooth muscle,paralog to LAMB1
UniProtKB/Swiss-Prot Function:
Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.

Gene Ontology (GO) - Molecular Function for LAMB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity NAS 7698745
genes like me logo Genes that share ontologies with LAMB2: view
genes like me logo Genes that share phenotypes with LAMB2: view

Human Phenotype Ontology for LAMB2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LAMB2 Gene

MGI Knock Outs for LAMB2:

Animal Model Products

miRNA for LAMB2 Gene

miRTarBase miRNAs that target LAMB2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for LAMB2 Gene

Localization for LAMB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LAMB2 Gene

Secreted, extracellular space, extracellular matrix, basement membrane. Note=S-laminin is concentrated in the synaptic cleft of the neuromuscular junction.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LAMB2 Gene COMPARTMENTS Subcellular localization image for LAMB2 gene
Compartment Confidence
extracellular 5
plasma membrane 3
cytosol 2
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for LAMB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005604 basement membrane IDA 2099832
genes like me logo Genes that share ontologies with LAMB2: view

Pathways & Interactions for LAMB2 Gene

genes like me logo Genes that share pathways with LAMB2: view

SIGNOR curated interactions for LAMB2 Gene

Activates:

Gene Ontology (GO) - Biological Process for LAMB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007601 visual perception IEA --
GO:0014002 astrocyte development IEA --
GO:0030198 extracellular matrix organization TAS --
GO:0048677 axon extension involved in regeneration IEA --
GO:0072249 metanephric glomerular visceral epithelial cell development IEA --
genes like me logo Genes that share ontologies with LAMB2: view

Drugs & Compounds for LAMB2 Gene

(3) Drugs for LAMB2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for LAMB2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with LAMB2: view

Transcripts for LAMB2 Gene

Unigene Clusters for LAMB2 Gene

Laminin, beta 2 (laminin S):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for LAMB2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17a ·
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: - - - - - -
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19: - - - - - - - - - - - - - - -
SP20: - - - - - - - - - - - - - - - - - - - -
SP21:

ExUns: 17b ^ 18a · 18b ^ 19a · 19b ^ 20 ^ 21a · 21b ^ 22 ^ 23a · 23b ^ 24a · 24b ^ 25a · 25b ^ 26 ^ 27 ^ 28 ^ 29 ^ 30a · 30b ^ 31a · 31b ^ 32 ^ 33 ^ 34 ^
SP1:
SP2:
SP3:
SP4: -
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14: -
SP15:
SP16:
SP17:
SP18: - - - - -
SP19:
SP20: - - - - - -
SP21: -

ExUns: 35 ^ 36 ^ 37a · 37b · 37c ^ 38 ^ 39 ^ 40a · 40b · 40c ^ 41
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9: - -
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:

Relevant External Links for LAMB2 Gene

GeneLoc Exon Structure for
LAMB2
ECgene alternative splicing isoforms for
LAMB2

Expression for LAMB2 Gene

mRNA expression in normal human tissues for LAMB2 Gene

Protein differential expression in normal tissues from HIPED for LAMB2 Gene

This gene is overexpressed in Adipocyte (22.0) and Urinary Bladder (21.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for LAMB2 Gene



SOURCE GeneReport for Unigene cluster for LAMB2 Gene Hs.439726

genes like me logo Genes that share expression patterns with LAMB2: view

Protein tissue co-expression partners for LAMB2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for LAMB2 Gene

Orthologs for LAMB2 Gene

This gene was present in the common ancestor of animals.

Orthologs for LAMB2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LAMB2 36
  • 99 (a)
OneToOne
LAMB2 35
  • 97.77 (n)
  • 97.15 (a)
cow
(Bos Taurus)
Mammalia LAMB2 35
  • 87.53 (n)
  • 89.61 (a)
LAMC1 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LAMB2 36
  • 91 (a)
OneToOne
LAMB2 35
  • 88.99 (n)
  • 91.05 (a)
mouse
(Mus musculus)
Mammalia Lamb2 16
Lamb2 36
  • 88 (a)
OneToOne
Lamb2 35
  • 85.88 (n)
  • 88.47 (a)
oppossum
(Monodelphis domestica)
Mammalia LAMB2 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LAMB2 36
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lamb2 35
  • 85.11 (n)
  • 88.1 (a)
chicken
(Gallus gallus)
Aves LAMB2 35
  • 66.55 (n)
  • 62.96 (a)
LAMB2 36
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LAMB2 36
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lamb2 35
  • 62.41 (n)
  • 60.78 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10035 35
zebrafish
(Danio rerio)
Actinopterygii lamb2 36
  • 60 (a)
OneToOne
lamb2 35
  • 62.38 (n)
  • 60.26 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001381 35
  • 50.22 (n)
  • 41.51 (a)
fruit fly
(Drosophila melanogaster)
Insecta LanB1 35
  • 49.36 (n)
  • 42.56 (a)
LanB1 37
  • 39 (a)
LanB1 36
  • 40 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea lam-1 35
  • 47.04 (n)
  • 41.46 (a)
lam-1 36
  • 40 (a)
OneToMany
lam-1 37
  • 38 (a)
Species with no ortholog for LAMB2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LAMB2 Gene

ENSEMBL:
Gene Tree for LAMB2 (if available)
TreeFam:
Gene Tree for LAMB2 (if available)

Paralogs for LAMB2 Gene

Paralogs for LAMB2 Gene

(6) SIMAP similar genes for LAMB2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with LAMB2: view

Variants for LAMB2 Gene

Sequence variations from dbSNP and Humsavar for LAMB2 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
VAR_031968 Pierson syndrome (PIERSS)
VAR_031969 Pierson syndrome (PIERSS)
VAR_031970 Pierson syndrome (PIERSS)
rs34759087 - 49,124,851(+) GCACT(C/T)ACACA reference, missense
VAR_031972 Pierson syndrome (PIERSS)

Structural Variations from Database of Genomic Variants (DGV) for LAMB2 Gene

Variant ID Type Subtype PubMed ID
nsv876764 CNV Loss 21882294
nsv834686 CNV Loss 17160897
nsv876765 CNV Loss 21882294

Variation tolerance for LAMB2 Gene

Residual Variation Intolerance Score: 62.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.75; 78.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LAMB2 Gene

HapMap Linkage Disequilibrium report
LAMB2
Human Gene Mutation Database (HGMD)
LAMB2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LAMB2 Gene

Disorders for LAMB2 Gene

MalaCards: The human disease database

(17) MalaCards diseases for LAMB2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
pierson syndrome
  • microcoria - congenital nephrosis
nephrotic syndrome, type 5, with or without ocular abnormalities
  • nphs5
synaptic congenital myasthenic syndromes
nephrotic syndrome
  • finnish congenital nephrosis
congenital myasthenic syndrome
  • familial infantile myasthenia 1
- elite association - COSMIC cancer census association via MalaCards
Search LAMB2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LAMB2_HUMAN
  • Pierson syndrome (PIERSS) [MIM:609049]: Characterized by nephrotic syndrome with neonatal onset, diffuse mesangial sclerosis and eye abnormalities with microcoria as the leading clinical feature. Death usually occurs within the first weeks of life. Disease severity depends on the mutation type: nontruncating LAMB2 mutations may display variable phenotypes ranging from a milder variant of Pierson syndrome to isolated congenital nephrotic syndrome. {ECO:0000269 PubMed:15367484, ECO:0000269 PubMed:16912710}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Nephrotic syndrome 5 with or without ocular abnormalities (NPHS5) [MIM:614199]: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. NPHS5 is characterized by very early onset of progressive renal failure. A subset of patients may develop mild ocular anomalies, such as myopia, nystagmus, and strabismus. {ECO:0000269 PubMed:21236492}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for LAMB2

Genetic Association Database (GAD)
LAMB2
Human Genome Epidemiology (HuGE) Navigator
LAMB2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LAMB2
genes like me logo Genes that share disorders with LAMB2: view

No data available for Genatlas for LAMB2 Gene

Publications for LAMB2 Gene

  1. Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. (PMID: 16912710) Hasselbacher K. … Hildebrandt F. (Kidney Int. 2006) 3 4 23 67
  2. [LAMB2 gene mutation as a cause of congenital nephrotic syndrome with distinct eye abnormalities and hypotonia]. (PMID: 16898484) Zurowska A. … Zenker M. (Prz. Lek. 2006) 3 23
  3. Identification of a new autoantibody in patients with chronic hepatitis. (PMID: 15603881) Fukuda Y. … Kato T. (Hum. Immunol. 2004) 3 23
  4. Characterization of the human laminin beta2 chain locus (LAMB2): linkage to a gene containing a nonprocessed, transcribed LAMB2-like pseudogene (LAMB2L) and to the gene encoding glutaminyl tRNA synthetase (QARS). (PMID: 10393422) Durkin M.E. … Wewer U.M. (Cytogenet. Cell Genet. 1999) 2 3
  5. The human laminin beta 2 chain (S-laminin): structure, expression in fetal tissues and chromosomal assignment of the LAMB2 gene. (PMID: 7795887) Iivanainen A. … Tryggvason K. (Matrix Biol. 1995) 3 23

Products for LAMB2 Gene

Sources for LAMB2 Gene

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